A female newborn is reported with focal dermal hypoplasia (Goltz-Gorlin syndrome) presenting multiple skin and extremity-abnormalities. A short review of today's literature in relation to mode of inheritance and clinical manifestations is given.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.
Osteoporos Int
January 2025
Hospital del Mar Research Institute, Centro de Investigación Biomédica en Red de Fragilidad y Envejecimiento Saludable (CIBERFES), Barcelona, Spain.
A 29-year-old Spanish Caucasian man, without relevant family history, was attended in our unit due to an undiagnosed skeletal dysplasia associated with low bone mass and several fragility fractures throughout his childhood and adolescence. DXA exams throughout his life showed very low BMD values; currently, his spinal and femoral neck T-scores were - 4.3 and - 3.
View Article and Find Full Text PDFEvaluation of multidrug resistance in the Gram-negative microbiome of cancer patients and the adverse effects of their metabolites on albino rats and epithelial or fibroblasts cell lines.
Infect Agent Cancer
January 2025
Genetics and Cytology Department, National Research Centre, Dokki, 12622, Giza, Egypt.
Background: Cancer is a significant global health issue due to its high incidence and mortality rates. In recent years, the relationship between the human microbiota and cancer has garnered attention across various medical fields. This includes research into the microbial communities that influence cancer development, tumor-associated microorganisms, and the interactions between the microbiome and tumor, collectively referred to as the oncobiome.
View Article and Find Full Text PDFBiological hallmarks of systemic sclerosis are present in the skin and serum of patients with Very Early Diagnosis of SSc (VEDOSS).
Rheumatology (Oxford)
December 2024
Leeds Institute of Rheumatic and Musculoskeletal Medicine and Biomedical Research Centre, University of Leeds.
Objective: The Very Early Diagnosis of Systemic Sclerosis (VEDOSS) EUSTAR study showed that, despite not showing any clinical sign of disease, patients with Raynaud's and antinuclear antibodies and/or capillaroscopy abnormalities often progress to systemic sclerosis (SSc) within 5 years. We aimed to determine whether VEDOSS biosamples show biological SSc activity pre-clinically.
Methods: Skin biopsies were histologically analysed.
Phenotypic Spectrum of GNA11 R183C Mosaicism.
Pediatr Dermatol
December 2024
Pediatric Dermatology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Spain.
Background: Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G-protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.
Methods: This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high-depth next generation sequencing.
Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy.
BMJ Case Rep
November 2024
Endocrinology, Nizam's Institute of Medical Sciences, Hyderabad, India
A toddler presented with failure to thrive and dysmorphic features since birth. On examination, she was found to have a cleft lip, syndactyly, hypopigmented patchy skin lesions and patchy alopecia. The baseline haematological evaluation was normal.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!